Pathogenesis of acephalic spermatozoa syndrome caused by SUN5 variant.

Acephalic spermatozoa syndrome (ASS) is a rare teratozoospermia that leads to male infertility. Previous work suggested a genetic origin. Variants of Sad1 and UNC84 domain containing 5 (SUN5) are the main genetic cause of ASS; however, its pathogenesis remains unclear. Here, we performed whole-exome sequencing in 10 unrelated ASS and identified 2 homozygous variants, c.381delA[p.V128Sfs7*] and c.675C>A[p.Y225X], and 1 compound variant, c.88 C > T[p.R30X] and c.381 delA [p.V128Sfs7*], in SUN5 in 4 patients. The c.381delA variant had been identified as pathogenic in previous reports, while c.675C>A and c.88 C > T were two novel variants which could lead to a premature termination codon (PTC) and resulted in loss of SUN5, and may also be pathogenic. SUN5 mRNA and protein were present at very low levels in ASS patients with SUN5 nonsense mutation. Furthermore, the distribution of outer dense fiber protein 1 (ODF1) and Nesprin3 was altered in sperm of ASS patients with SUN5 variants. The co-immunoprecipitation analysis indicated that SUN5 and ODF1, SUN5 and Nesprin3, and ODF1 and Nesprin3 interacted with each other in transfected HEK293T cells. Thus, we propose that SUN5, Nesprin3, and ODF1 may form a 'triplet' structure through interactions at neck of sperm. When gene variants resulted in a loss of SUN5, the 'triplet' structure disappears and then the head-tail junction becomes fragile, leading to the occurrence of ASS.

Antioxidation and anti-inflammatory activity of Tang Bi Kang in rats with diabetic peripheral neuropathy.

BACKGROUND: Tang Bi Kang (TBK) is a traditional Chinese medicine granule. It has been shown to have effects on nerve conduction velocity deficits, blood-related factors and oxidative stress. This study was undertaken to evaluate proposed antioxidative and anti-inflammatory activity of Tang Bi Kang in rats with diabetic peripheral neuropathy (DPN). METHODS: DPN was induced in male Wistar rats by intraperitoneal administration of streptozocin (STZ) (60 mg/kg.b.w) for 8 weeks. Fasting blood glucose (FBG) levels were measured in the blood obtained by clipping the tails of the rats. Tail-flick tests were conducted with a tail-flick analgesic meter. Motor and sensory nerve conduction velocities (MNCV and SNCV) of sciatic nerve were measured directly at two sites using a Functional Experiment System. Oxidative stress makers such as malondialdehyde (MDA), superoxide-dismutase (SOD) and glutathione peroxidase (GSH-Px), inflammatory cytokines such as interleukin (IL)-6, and tumour necrosis factor (TNF)-α were estimated. The statistical analysis of results was carried out using Student t-test and one-way analysis of variance (ANOVA), followed by least-significant difference post hoc with SPSS. RESULTS: The administration of TBK for 4 weeks in DPN rats resulted in a significant decrease in FBG levels compared to untreated DPN rats. There was a significant increase in MNCV and SNCV in the DPN rats compared to untreated DPN rats. Serum level of MDA was significantly reduced while the activities of SOD and GSH-pX were significantly increased in the TBK treated DPN rats. TBK prevented DPN-induced increase in the serum levels of IL-6 and TNF-α. CONCLUSION: The results of this study demonstrate that the therapeutic effect of TBK on DPN rats may be associated with the antioxidative and anti-inflammatory responses.

[Rapid determination of chemical components in interstitial water of lake sediments using near-infrared spectroscopy].

The near infrared reflectance spectra (NIRS) of interstitial water samples of lake sediments in Chaohu lake were determined by near-infrared reflectance spectrometry. The respective near NIRS calibration models for predicting total nitrogen (TN), total organic carbon (TOC), phosphorus ( PO3(3-)), ammonia nitrogen(NH3-N) and silicate (SiO3-) were built using partial least squares (PLS) algorithm with two spectral pretreatment tools including, wavelet compression combining orthogonal signal correction (OSC) and orthogonal signal correction (OSC) combining wavelet compression. The correlation coefficients between measured values and predicted values in calibration set for TN, NH3-N, PO3(3-), TOC and SiO3(3-) were 0.975, 0.989, 0.937, 0.862 and 0.888, respectively. RMSEC (root mean square error of the calibration) for TN, NH3-N, PO3(3-), TOC and SiO3- were 0.353, 0.238, 0.031 3, 2.005 and 2.674 mg x L(-1), respectively. The correlation coefficients between measured values and predicted values in validation set for TN, NH3-N, PO3(3-), TOC and SiO3- were 0.912, 0.918, 0.773, 0.337 and 0. 856, respectively. RMSEP(root mean square error of the prediction)for TN, NH3-N, PO3(3-), TOC and SiO3- were 1.424, 0.945, 0.081, 7.866 and 4.273 mg x L(-1), respectively.

[Rapid determination of nutrient components in lake sediments using near infrared spectroscopy].

The lake sediments record important environmental evolution information of lake in recent 100 years. However, a rapid and precise combination analytical method measuring nutrient components in lake sediments can not be established. The near infrared reflectance spectra (NIRS) of sediment coring samples were determined by near-infrared reflectance spectrometry. The respective near NIRS calibration models for predicting total carbon (TC), total nitrogen (TN), total organic carbon (TOC) and total phosphorus (TP) were built first in China using partial least squares (PLS) algorithm with six spectral pretreatment tools including first-order derivate, wavelet denoise, orthogonal signal correction (OSC), wavelet denoise combining orthogonal signal correction (OSC), first-order derivate combining orthogonal signal correction (OSC), and orthogonal signal correction (OSC) combining wavelet compression. The results showed that although NIR all calibration models can not well predict TOC, the first-order derivate combining OSC spectral calibration model had a good prediction for TC and TN, and for TP OSC spectral calibration model was good. The correlation coefficients between measuring values and predicted values in validation set for TC, TN and TP were 0.76, 0.87 and 0.81, respectively. RMSEP (Root mean square error of the prediction) for TC, TN and TP were 0.13%, 0.0082% and 0.012%, respectively. The study has an important significance of driving the domestic researches on spectroscopy characteristic of lake sediments and establishment of rapid analytical technique determining nutrient components of lake sediments.